GENOME-WIDE STUDY REVEALS THREE NEW SUSCEPTIBILITY LOCI FOR ADULT ASTHMA

IN JAPANESE POPULATION

AND 

NEW GENE IDENTIFIED FOR RESTLESS LEGS SYNDROME

 

Erika Julieth Salazar JiménezMedicine Student

UPB

Folding

Folding

Introduction

In adults, death caused by asthma is by far most prevalent among the elderly.

Treatment techniques remain ineffective in severe cases.

The frequency of RLS increases with age.

One of these regions is within a gene involved in regulating brain activity, TOX3.

Genome-Wide Study Reveals Three New Susceptibility Loci for Adult Asthma in Japanese Population ScienceDaily (Aug. 1, 2011) 

Hundreds of millions of people suffer bronchial asthma. Treatmen techniques remain inefecctive in severe cases, resulting in chronic suffering and a heavy economic burden for patients and their families.

Genome-Wide Study Reveals Three New Susceptibility Loci for Adult Asthma in Japanese Population ScienceDaily (Aug. 1, 2011) 

A research group conducted a genome-wide association study in adult patients. Of a total of about 460,000 genetic variants single nucleotide polymorphisms (SNPs), identified three new gene regions associated with susceptibility to asthma in adults, which had not been connected to the disease.

Genome-Wide Study Reveals Three New Susceptibility Loci for Adult Asthma in Japanese Population ScienceDaily (Aug. 1, 2011) 

The regions identified contain SNPs previously associated with the FEV1/FVC ratio, crucial to the diagnosis of obstructive and restrictive diseases, as well as numerous genes that in immunity response to infection and inflammation.

Genome-Wide Study Reveals Three New Susceptibility Loci for Adult Asthma in Japanese Population ScienceDaily (Aug. 1, 2011) 

One of these genes encodes the protein thymic stromal lymphopoietin (TSLP), which plays a critical role in sensing environmental agents and triggering immune response(the region may be a common hereditary factor for asthma among ethnic groups).

ObservationGenome-Wide Study Reveals Three New Susceptibility Loci for Adult Asthma in Japanese Population ScienceDaily (Aug. 1, 2011) 

This news is important because with the discovery of these new genes is a new picture of scientific certainty for the diagnosis, addresing preventive and curative or regulation of people with this syndrome.

New Gene Identified for Restless Legs Syndrome ScienceDaily (July 15, 2011) 

Have been researching the origin of RLS, aiming to improve diagnostics and the treatment of patients with RLS.

New Gene Identified for Restless Legs Syndrome ScienceDaily (July 15, 2011) 

Analysed genetic sequence variants (SNPs) distributed over the entire genome and discovered two new genetic regions which play a role in the development of RLS.

New Gene Identified for Restless Legs Syndrome ScienceDaily (July 15, 2011) 

One of these regions is within a gene involved in regulating brain activity, TOX3.

Increased TOX3 protein protects neuronal cells from cell death

New Gene Identified for Restless Legs Syndrome ScienceDaily (July 15, 2011)  

The precise connection between TOX3 and RLS is as yet unknown.

ObservationNew Gene Identified for Restless Legs Syndrome ScienceDaily (July 15, 2011) 

With this news we see the importance of the exact location of the genes and polymorphisms for the expression of different pathologies and the relationship of the inheritance. As well the influence on physiological functions and behaviors.

Medical Utility

The study results indicate paths to more effective treatment techniques and a better future for millions of asthma sufferers.

Medical Utility

Can shorten the treatment of disease and the presence of the same, plus reduce costs. As also the possibility of public access to treatment and consequentially to a cure.

Medical Utility

These findings set the basis for research on underlying mechanisms, a prerequisite for the development of new treatments.

Medical UtilityBegin to open new doors from the scientific point of view for creating drugs that provide treatment for the disease RLS.

With the investment in scientific research reduces costs for further treatment once found the antidote to counteract the effects of the disease.

This study is important because the investment in scientific research increases indexes of good quality of life in patients with this syndrome.

Bibliography MARTINEZ SANCHEZ, LINA MARIA. , ET ALL. Biología

Molecular, libro de clase. Sexta Edición. Universidad Pontificia Bolivariana. Medellín 2011

Genome-Wide Study Reveals Three New Susceptibility Loci for Adult Asthma in Japanese Population Science News. [ en línea ]. <Disponiblehttp://www.sciencedaily.com/releases/2010/09/100910083350.htm > [ consulta : 13 SEPT. 2011]  

Science News. New Gene Identified for Restless Legs Syndrome [ en línea ]. <Disponible http://www.sciencedaily.com/releases/2011/07/110731170022.htm > [ consulta : 13 SEPT. 2011]  

THANKS!